새열이 증후군(Branchio-Otic Syndrome) 1예
A Case of Branchio-Otic Syndrome
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초록
Branchio-oto-renal (BOR) syndrome is a clinically heterogeneous autosomal dominant form of syndromic hearing loss characterized by variable hearing impairment, malformations of the pinnae, the presence of branchial arch remnants, and various renal abnormalities. BOR syndrome is caused by mutations in EYA1 and SIX1, which are critical to organogenesis and are expressed together in developing otic, branchial, and renal tissue. Branchio-otic (BO) syndrome comprises branchial fistulas and preauricular pits, but lacks renal anomalies. We present a case of BO syndrome in 30year-old man with a review of the literature.
Abstract
Branchio-oto-renal (BOR) syndrome is a clinically heterogeneous autosomal dominant form of syndromic hearing loss characterized by variable hearing impairment, malformations of the pinnae, the presence of branchial arch remnants, and various renal abnormalities. BOR syndrome is caused by mutations in EYA1 and SIX1, which are critical to organogenesis and are expressed together in developing otic, branchial, and renal tissue. Branchio-otic (BO) syndrome comprises branchial fistulas and preauricular pits, but lacks renal anomalies. We present a case of BO syndrome in 30year-old man with a review of the literature.
참고문헌 (15)
- Drumm AJ, "Congenital neck masses", Am Fam Physician, 39(1), pp.159~163 (1989)
- Trummer T, "Branchio-oculofacial syndrome and branchio-otic", branchio-oto-renal syndromes are distinct entities, 2002, pp.39(1), 71~73
- Senel E, "From a branchial fistula to a branchiootorenal syndrome:a case report and review of the literature", J Pediatr Surg, 44(3), pp.623~625 (2009)
- 박성국, "Pressure dressing after excision of preauricular sinus: Suture transfixion of silicone sheets", Journal of Laryngology and Otology, 123(12), pp.1367~1370
- Chandler JR, "Branchial cleft cysts,sinuses,and fistulas", Otolaryngol Clin North Am, 14(1), pp.175~186 (1981)
- Work WP, "The otologist and first branchial cleft anomalies", Ann Otol Rhino Laryngol, 72, pp.548~562 (1963)
- Stinckens C, "The presence of a widened vestibular aqueduct and progressive sensorineural hearing loss in the branchio-oto-renal syndrome,A family study", Int J Pediatr Otorhinolaryngol, 59(3), pp.163~172 (2001)
- Kochhar A, "SIX1 mutation screening in 247 Branchio-oto-renal syndrome families:a recurrent missense mutation associated with BOR", Hum Mutat, 29(4), pp.565~ (2008)
- Kochhar A, "Branchio-oto-renal sundrome", Am J Med Genet A, 143A(14), pp.1671~1678 (2007)
- Hoskins BE, "Transcription facrot SIX5 is mutated in patients with branchio-oto-renal syndorme", Am J Hum Genet, 80(4), pp.800~804 (2007)
- Krug P, "Mutation screening of the EYA1,SIX1,and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations", Hum Mutat, 32(2), pp.183~190 (2011)
- Propst EJ, "Temporal bone findings on computed tomography imaging in branchio-oto-renal syndorme", Laryngoscope, 115(10), pp.1855~1862 (2005)
- Ma HW, "A case of bilateral second branchial cleft anomaly", J Clinical Otolaryngol, 10(2), pp.280~285 (1999)
- 박영학, "양측성 제 2 새루 1예", 대한이비인후과학회지 두경부외과학, 48(5), pp.676~679 (2005), 대한이비인후과학회
- 김형민, "양측성 제2새기형 치험 1예", 대한이비인후과학회지 두경부외과학, 53(11), pp.723~725 (2010), 대한이비인후과학회